Huntington's Disease Analysis - Research Paper Example

Abstract

The purpose of this research paper is to show the complexity of the human neural and nervous system which controls functions such as mental cognition, social interaction, and voluntary muscle movements/control. Dysfunctions of the neural and nervous system due to Huntington’s disease (HD) creates havoc on the patient’s ability to walk, have control of muscles, retain a sense of placement of social standing and self-awareness. The first symptoms of HD include personality changes followed by the gradual involuntary movements of the muscular system. Eventually, the neurological degradation results in loss of major muscle group control and a mental spiral into dementia finally ending with the death of the inflicted. The objective of this essay is to outline medical information regarding HD on how it affects the body and mind and to discuss the psychological turmoil it creates for those directly affected, those concerned from a secondary standpoint and the ethical and responsibilities of medical personnel.

History

Huntington’s disease is a gene disorder that was named after George Huntington, the man that first described the disease in 1872. Ideally, Huntington’s disease is a hereditary neurodegenerative disorder that affects human beings when the gene responsible for the illness is compromised. In the year 1997, a group of scientists discovered the gene that was responsible for Huntington’s disease (Walker, 2007). The move was a breakthrough since from the discovery it would now be possible to diagnose the disorder using both tissue and blood samples. George Huntington wrote a research paper titled ‘On Chorea’ that was later published in the Medical and Surgical Report of Philadelphia where he detailed the background of Huntington’s disease. It is worth noting that in the eighteenth and nineteenth centuries, chronic adult hereditary Huntington’s disease was poorly diagnosed since individuals suffering from the disorder often passed on before elaborate symptoms of the disease would manifest. However, with the developments advanced in the field, currently, victims of Huntington’s disease can live long thus the Huntington’s disease genes have more time to develop and express itself (Walker, 2007).

Epigenetic Causes

Huntington’s disease is a result a mutation in a gene that is located on chromosome 4. Ideally, the gene is common to all human beings, and it is characterized by a CAG repeat sequence. Despite advances in the field, researchers have not conclusively outlined the gene’s normal function. In the case of Huntington’s disease, the gene often causes abnormal numerous CAG repeats. It is prudent that the larger the number of CAG repeats the high probability of the disorder manifesting itself earlier in life in any given individual. Similarly, when the gene is hereditary from father to a child it significantly lengthens resulting in its incidence at a previous stage as opposed to when the elongation of the protein is moderate. It is worth noting that genes that are responsible for diseases are either recessive or dominant. For this case, Huntington gene is dominant in the sense that any child whose parent is affected has a 0.5 probability of contacting the gene and thus a 50% chance of inheriting the disease (Sengul and Hanci, 2014).

Conversely, if an individual with a parent suffering from Huntington’s disease but he/she does not inherit the mutant gene; that individually is likely to pass it on to anyone else. Ideally, Huntington’s disease causes a gradual breakdown of nerve cells in the brain a situation that adversely affects a person’s cognition, mental status as well as general movement. From a genetic perspective, Huntington’s disease is often linked to a mutation in the Huntington gene that causes the Huntington protein to be produced with an elongated region containing amino acid glutamine. Studies indicate that the toxic effect of Huntington protein on human cells may not be solely caused by the elongation of the protein but also other proteins that may be present in the cell. Similarly, elongated Huntington protein develops clumps in human cells that are later transported and stored in aggresome until they are gotten rid of the body. Despite the fact that the compartment is assumed to protect the cell contents from toxicity in the aggresome, studies indicate that Huntington molecules present inside the aggresome are equally toxic to the cell.

Symptoms and Treatment

It is prudent that regardless of research has been advanced concerning the mutant gene that causes Huntington’s disease quite often the symptoms do not manifest until later in life. Thus, carriers of the mutant Huntington’s disease gene will be without symptoms for quite a time, but they can transfer it to anyone else. In most cases Huntington’s disease manifests itself in mid-life though at times the disorder can be manifested during childhood or later in old age. Initially, the symptoms of Huntington’s disease are subtle as they are only characterized by dementia, movement disorders, and psychiatric disturbances. Other symptoms associated with the disease may include weight loss, personality’s changes, hard-to-comprehend speech as well as difficulty in swallowing (Sengul and Hanci, 2014). Ideally, when an individual first manifests the symptoms of Huntington’s disease, the disorder can last anywhere between ten and thirty years before the person affected can succumb to the effects of the disease. Since Huntington’s disease is a prolonged disorder with a lifespan of roughly thirty years its symptoms can be categorized into three main phases.

During the early stage, the person suffering from Huntington’s disease can be able to perform routine duties without any form of assistance. However, the victim is prone to mild involuntary movements as well as infrequencies. Additionally, the speech at this phase is still alert while dementia is mild at the present. At the middle stage, the symptoms degenerate from mild to severe since the patients are disabled to an extent that they require assistance to conduct some of their routine activities. Similarly, they experience weight loss, falls and swallowing difficulties.

Ideally, they are prone to falls as a result of involuntary movements that become more profound. The last stage is characterized by the symptoms worsening to an extent that the patient is decapitated. At this phase, the symptoms have advanced, and the patients are typically physically challenged to an extent that they require round the clock assistance to carry on with their routine duties. Additionally, at the last stage, the symptoms are full blown, and the victims can no longer speak or walk since all these functions have been compromised by the effects of the disorder. That notwithstanding, patients at the last stage are often seen not to suffer since their cognition has been compromised to a point where they are unaware of their surroundings.

In essence, the symptoms for Huntington’s disease can be categorized into behavioral change, abnormal movements as well as dementia. Some of the notable changes in behavior for people suffering from Huntington’s disease include irritability, behavioral disturbance, hallucinations, mood swings as well as paranoia and psychosis. When it comes to unusual movements; victims of Huntington’s disease experience involuntary facial movements that include grimaces, unsteady gait, slow and uncontrolled general changes as well as the position of the Head turning to shift eye position (Martinez-Horta, Perez-Perez, and Van Duijn, 2016).

Scientifically, there is no exact cure for Huntington’s disease. However, numerous interventions have been advanced to slow down the progression of symptoms. During the first two stages of the disorder, medication can be given the victims to suppress involuntary movements and thus prevent abnormal movements as well as behavioral changes. Dopamine blocker is a medical therapy that helps to reduce abnormal behavior and involuntary movements caused as a result of Huntington’s disease. Similarly, drugs such as Amantadine and Tetrabenazine can also be utilized to control abnormal and involuntary movements. Ideally, given the fact that the disease does not have the cure, prevention mechanism are ideal to prevent the recurrence of the disorder. In that regard, counseling is offered where individuals are advised to undertake predictive and prenatal testing to detect whether they have the HD mutant gene to prevent it from passing on to their offspring (Danivas, 2013).

Evaluation

According to Dyer (2015), the disclosure of Huntington’s disease to siblings is a crucial issue since it may degenerate into adverse actions such as upsetting the children, victims procuring abortions or even other committing suicide. Ideally, parents often do not give consent for the Huntington’s disease test results to be disclosed to their children until they become adults. The fact that the parents possessed the mutant gene responsible for Huntington’s disease makes their siblings at a 50% chance of inheriting the disorder. In that light, the probability of children inheriting the disease thus is jeopardizing not only their health status but also that of their sibling.

Genetics & Environmental Law Weekly (2012) asserts that results of Huntington’s disease genetic test results for Huntington’s disease are one of the leading causes of discrimination. Ideally, some individuals prefer to have predictive tests so as to know their health status concerning the disorder. However, some people tend to be discriminated when they do not seek those tests. A person that does not know his/her Huntington’s disease status is likely to be discriminated since when he/she enters a matrimonial relationship the chances of producing victims of Huntington’s disease are likely due to lack of prior testing. Equally, individuals that have gone for genomic test and turned out to be positive with the mutant gene responsible for Huntington’s disease.

Despite legislative efforts to curb discrimination related to genetic information, cases of discrimination are rampant though a majority of them go unreported. For instance, America, the federal government signed the Genetic Information Nondiscrimination Act that prohibits health insurance and healthcare providers from using genetic information as a basis of profiling their clients. Cases of people failing to secure healthcare coverage as a result of their genomic composition have been reported while some customers sue National Healthcare management for negligence for failing to disclose genetic information that would have facilitates individual decisions.

Sengul and Hanci (2014) argues that regardless of the efforts that have been advanced to develop the cure for Huntington’s disease still, there is no breakthrough to date. However, numerous medications have been improved to suppress the symptoms of the disease that make the victims continue leading normal lives despite being in possession of the mutant genes responsible for the disorder.

Synthesis

It is evident Huntington’s disease is a genomic disorder the affects the gene structure of human beings in the nerve cells. Its symptoms are profound since they develop over an extended period thus increasing the lifespan of the disease. Typically, the symptoms start to manifest in mid-life and adulthood though at times young children are diagnosed with the disease. Instances of genetic information discrimination have been reported with a genomic test for Huntington’s disease being among the primary causes of such profiling. In that regard, a majority of parents that are diagnosed with the disease Legislative efforts have been made that seek to avert instances of profiling based on genetic information. Ideally, given the fact that Huntington’s disease has no specific cure, prevention is the primary initiative that is made by healthcare providers by encouraging people to get tested to ensure the mutant gene is not passed on down family lineages.